{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T18:53:06Z","timestamp":1783018386331,"version":"3.54.6"},"reference-count":60,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T00:00:00Z","timestamp":1780531200000},"content-version":"vor","delay-in-days":154,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82271903"],"award-info":[{"award-number":["82271903"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>This study investigated brain structural changes associated with NOTCH2NLC gene mutations in neuronal intranuclear inclusion disease (NIID) patients, focusing on the evolutionary implications of this human-specific gene in brain development. We analysed 41 NIID patients and 21 healthy controls using voxel-based morphometry and surface-based morphometry to assess differences in grey matter volume and cortical complexity. Spatial relationships between brain atrophy and white matter hyperintensity volume as well as cerebrospinal fluid fraction were examined. Additionally, we conducted exploratory Spearman correlation analyses to evaluate associations between regional grey matter volume and clinical variables, including GGC repeat length, disease duration, age at onset and cognitive scores. NIID patients exhibited extensive reductions in grey matter volume and cortical thinning in multiple brain regions, with pronounced effects in the prefrontal cortex and cerebellum. The parietal lobe, insula and posterior cingulate gyrus showed decreased gyrification index and fractal dimension, while certain regions of the temporal and frontal lobes showed increased gyrification index and fractal dimension. Furthermore, in the NIID group, white matter hyperintensity volume and cerebrospinal fluid fraction were negatively correlated with grey matter volume in the olfactory cortex, orbital gyrus, anterior cingulate gyrus, insula, amygdala and temporal pole. Exploratory analyses suggested that longer GGC repeats were associated with greater atrophy in the striatum, middle cingulate cortex, sensorimotor cortex and cerebellum; earlier age at onset with thalamic (mediodorsal\/pulvinar), occipital and cerebellar atrophy; and poorer cognitive scores with atrophy in the anterior cingulate cortex, superior occipital gyrus and superior temporal pole. This study uncovers widespread and complex cerebral structural changes in NIID patients, predominantly affecting the prefrontal cortex, cerebellum, insula and limbic system structures. These findings provide new insights into the neuroanatomical basis of NIID and support the hypothesis that human-specific genetic innovations driving cortical expansion may concurrently confer selective vulnerability to neurodegeneration.<\/jats:p>","DOI":"10.1093\/braincomms\/fcag206","type":"journal-article","created":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T11:34:04Z","timestamp":1780400044000},"source":"Crossref","is-referenced-by-count":0,"title":["Evolutionary implications of\n                    <i>NOTCH2NLC<\/i>\n                    mutations: brain structural changes in neuronal intranuclear inclusion disease revealed by comprehensive morphometry"],"prefix":"10.1093","volume":"8","author":[{"given":"Si","family":"Shen","sequence":"first","affiliation":[{"name":"Department of Neurology, Beijing Tiantan Hospital, Capital Medical University , Beijing 100070 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong-Fei","family":"Tai","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Tiantan Hospital, Capital Medical University , Beijing 100070 ,","place":["China"]},{"name":"National Clinical Research Center for Neurological Diseases , Beijing 100070 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Songtao","family":"Niu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Tiantan Hospital, Capital Medical University , Beijing 100070 ,","place":["China"]},{"name":"National Clinical Research Center for Neurological Diseases , Beijing 100070 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Tiantan Hospital, Capital Medical University , Beijing 100070 ,","place":["China"]},{"name":"National Clinical Research Center for Neurological Diseases , Beijing 100070 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingao","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Tiantan Hospital, Capital Medical University , Beijing 100070 ,","place":["China"]},{"name":"National Clinical Research Center for Neurological Diseases , Beijing 100070 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8370-9346","authenticated-orcid":false,"given":"Bin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Tiantan Hospital, Capital Medical University , Beijing 100070 ,","place":["China"]},{"name":"National Clinical Research Center for Neurological Diseases , Beijing 100070 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuzhi","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Tiantan Hospital, Capital Medical University , Beijing 100070 ,","place":["China"]},{"name":"National Clinical Research Center for Neurological Diseases , Beijing 100070 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hengheng","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Tiantan Hospital, Capital Medical University , Beijing 100070 ,","place":["China"]},{"name":"National Clinical Research Center for Neurological Diseases , Beijing 100070 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4878-7490","authenticated-orcid":false,"given":"Shan","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Radiology, Beijing Tiantan Hospital, Capital Medical University , Beijing 100070 ,","place":["China"]},{"name":"Tiantan Image Research Center, National Clinical Research Center for Neurological Diseases , Beijing 100070 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaou","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Radiology, Beijing Tiantan Hospital, Capital Medical University , Beijing 100070 ,","place":["China"]},{"name":"Tiantan Image Research Center, National Clinical Research Center for Neurological Diseases , Beijing 100070 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0053-3451","authenticated-orcid":false,"given":"Zaiqiang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Beijing Tiantan Hospital, Capital Medical University , Beijing 100070 ,","place":["China"]},{"name":"National Clinical Research Center for Neurological Diseases , Beijing 100070 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,6,3]]},"reference":[{"issue":"3","key":"2026070213415834700_fcag206-B1","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1093\/brain\/awad389","article-title":"The prefrontal cortex: From monkey to man","volume":"147","author":"Levy","year":"2024","journal-title":"Brain"},{"issue":"1","key":"2026070213415834700_fcag206-B2","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1038\/s41386-021-01076-5","article-title":"Evolution of prefrontal cortex","volume":"47","author":"Preuss","year":"2022","journal-title":"Neuropsychopharmacology"},{"key":"2026070213415834700_fcag206-B3","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.32332.045","article-title":"Evolution and cell-type specificity of human-specific genes preferentially expressed in progenitors of fetal neocortex","author":"Florio","year":"2018","journal-title":"Elife"},{"issue":"1","key":"2026070213415834700_fcag206-B4","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1146\/annurev-cellbio-112122-032521","article-title":"What makes us human: Insights from the evolution and development of the human neocortex","volume":"40","author":"Namba","year":"2024","journal-title":"Annu Rev Cell Dev Biol"},{"issue":"9","key":"2026070213415834700_fcag206-B5","doi-asserted-by":"crossref","first-page":"2531","DOI":"10.1093\/molbev\/msaa104","article-title":"Evolution of human brain size-associated NOTCH2NL genes proceeds toward reduced protein levels","volume":"37","author":"Lodewijk","year":"2020","journal-title":"Mol Biol Evol"},{"issue":"5","key":"2026070213415834700_fcag206-B6","doi-asserted-by":"crossref","DOI":"10.3390\/cells10051209","article-title":"Human-specific genes, cortical progenitor cells, and microcephaly","volume":"10","author":"Heide","year":"2021","journal-title":"Cells"},{"issue":"6503","key":"2026070213415834700_fcag206-B7","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1126\/science.abb2401","article-title":"Human-specific ARHGAP11B increases size and folding of primate neocortex in the fetal marmoset","volume":"369","author":"Heide","year":"2020","journal-title":"Science"},{"issue":"6229","key":"2026070213415834700_fcag206-B8","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1126\/science.aaa1975","article-title":"Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion","volume":"347","author":"Florio","year":"2015","journal-title":"Science"},{"issue":"4","key":"2026070213415834700_fcag206-B9","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1016\/j.cell.2012.03.034","article-title":"Inhibition of SRGAP2 function by its human-specific paralogs induces neoteny during spine maturation","volume":"149","author":"Charrier","year":"2012","journal-title":"Cell"},{"issue":"6","key":"2026070213415834700_fcag206-B10","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.1016\/j.cell.2018.03.051","article-title":"Human-specific NOTCH2NL genes affect notch signaling and cortical neurogenesis","volume":"173","author":"Fiddes","year":"2018","journal-title":"Cell"},{"issue":"6","key":"2026070213415834700_fcag206-B11","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1016\/j.cell.2018.03.067","article-title":"Human-specific NOTCH2NL genes expand cortical neurogenesis through Delta\/notch regulation","volume":"173","author":"Suzuki","year":"2018","journal-title":"Cell"},{"issue":"8","key":"2026070213415834700_fcag206-B12","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1038\/s41588-019-0459-y","article-title":"Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease","volume":"51","author":"Sone","year":"2019","journal-title":"Nat Genet"},{"issue":"8","key":"2026070213415834700_fcag206-B13","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1038\/s41588-019-0458-z","article-title":"Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease","volume":"51","author":"Ishiura","year":"2019","journal-title":"Nat Genet"},{"issue":"1","key":"2026070213415834700_fcag206-B14","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.ajhg.2019.05.013","article-title":"Expansion of human-specific GGC repeat in neuronal intranuclear inclusion disease-related disorders","volume":"105","author":"Tian","year":"2019","journal-title":"Am J Hum Genet"},{"issue":"11","key":"2026070213415834700_fcag206-B15","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1136\/jmedgenet-2019-106268","article-title":"Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease","volume":"56","author":"Deng","year":"2019","journal-title":"J Med Genet"},{"issue":"Pt 12","key":"2026070213415834700_fcag206-B16","doi-asserted-by":"crossref","first-page":"3170","DOI":"10.1093\/brain\/aww249","article-title":"Clinicopathological features of adult-onset neuronal intranuclear inclusion disease","volume":"139","author":"Sone","year":"2016","journal-title":"Brain"},{"issue":"4","key":"2026070213415834700_fcag206-B17","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1046\/j.1440-1789.2003.00524.x","article-title":"Neuronal intranuclear hyaline inclusion disease","volume":"23","author":"Takahashi-Fujigasaki","year":"2003","journal-title":"Neuropathology"},{"issue":"2","key":"2026070213415834700_fcag206-B18","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000200057","article-title":"Clinical features and classification of neuronal intranuclear inclusion disease","volume":"9","author":"Tai","year":"2023","journal-title":"Neurol Genet."},{"issue":"12","key":"2026070213415834700_fcag206-B19","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1136\/jnnp-2022-329772","article-title":"Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease","volume":"93","author":"Tian","year":"2022","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"1","key":"2026070213415834700_fcag206-B20","doi-asserted-by":"crossref","first-page":"578","DOI":"10.14336\/AD.2024.0131-1","article-title":"Neuronal intranuclear inclusion disease with NOTCH2NLC GGC repeat expansion: A systematic review and challenges of phenotypic characterization","volume":"16","author":"Zeng","year":"2024","journal-title":"Aging Dis."},{"issue":"3","key":"2026070213415834700_fcag206-B21","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1136\/jnnp-2013-306084","article-title":"Neuronal intranuclear inclusion disease cases with leukoencephalopathy diagnosed via skin biopsy","volume":"85","author":"Sone","year":"2014","journal-title":"J Neurol Neurosurg Psychiatry."},{"issue":"1","key":"2026070213415834700_fcag206-B22","doi-asserted-by":"crossref","DOI":"10.1186\/s12883-022-03025-1","article-title":"Clinical-neuroimaging-pathological relationship analysis of adult onset neuronal intranuclear inclusion disease (NIID)","volume":"22","author":"Mao","year":"2022","journal-title":"BMC Neurol"},{"issue":"6 Pt 1","key":"2026070213415834700_fcag206-B23","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1006\/nimg.2000.0582","article-title":"Voxel-based morphometry\u2013the methods","volume":"11","author":"Ashburner","year":"2000","journal-title":"Neuroimage"},{"key":"2026070213415834700_fcag206-B24","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1016\/j.neuroimage.2012.09.050","article-title":"Cortical thickness and central surface estimation","volume":"65","author":"Dahnke","year":"2013","journal-title":"Neuroimage"},{"issue":"10","key":"2026070213415834700_fcag206-B25","doi-asserted-by":"crossref","first-page":"1704","DOI":"10.1002\/acn3.51860","article-title":"Cortical signature of depressive symptoms in frontotemporal dementia: A surface-based analysis","volume":"10","author":"Ghirelli","year":"2023","journal-title":"Ann Clin Transl Neurol"},{"issue":"3","key":"2026070213415834700_fcag206-B26","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1016\/j.neuroimage.2006.01.021","article-title":"An automated labeling system for subdividing the human cerebral cortex on MRI scans into gyral based regions of interest","volume":"31","author":"Desikan","year":"2006","journal-title":"Neuroimage"},{"issue":"11","key":"2026070213415834700_fcag206-B27","doi-asserted-by":"crossref","first-page":"2100","DOI":"10.3174\/ajnr.A5336","article-title":"MR imaging features of the cerebellum in adult-onset neuronal intranuclear inclusion disease: 8 cases","volume":"38","author":"Sugiyama","year":"2017","journal-title":"AJNR Am J Neuroradiol"},{"issue":"3","key":"2026070213415834700_fcag206-B28","doi-asserted-by":"crossref","first-page":"2045","DOI":"10.1016\/j.neuroimage.2009.10.045","article-title":"Evolution of the cerebellar cortex: The selective expansion of prefrontal-projecting cerebellar lobules","volume":"49","author":"Balsters","year":"2010","journal-title":"Neuroimage."},{"issue":"22","key":"2026070213415834700_fcag206-B29","doi-asserted-by":"crossref","first-page":"E5183","DOI":"10.1073\/pnas.1721653115","article-title":"Quantitative assessment of prefrontal cortex in humans relative to nonhuman primates","volume":"115","author":"Donahue","year":"2018","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"4","key":"2026070213415834700_fcag206-B30","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1038\/s41583-023-00675-z","article-title":"Developmental mechanisms underlying the evolution of human cortical circuits","volume":"24","author":"Vanderhaeghen","year":"2023","journal-title":"Nat Rev Neurosci."},{"issue":"3","key":"2026070213415834700_fcag206-B31","doi-asserted-by":"crossref","DOI":"10.1523\/ENEURO.0468-20.2021","article-title":"Notch signaling between cerebellar granule cell progenitors","volume":"8","author":"Adachi","year":"2021","journal-title":"eNeuro"},{"issue":"5","key":"2026070213415834700_fcag206-B32","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1136\/jmedgenet-2020-107649","article-title":"Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease","volume":"59","author":"Deng","year":"2022","journal-title":"J Med Genet"},{"issue":"11","key":"2026070213415834700_fcag206-B33","doi-asserted-by":"crossref","first-page":"1825","DOI":"10.1016\/j.neuron.2021.03.038","article-title":"Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases","volume":"109","author":"Boivin","year":"2021","journal-title":"Neuron"},{"issue":"6","key":"2026070213415834700_fcag206-B34","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1007\/s00401-021-02375-3","article-title":"Upstream open reading frame with NOTCH2NLC GGC expansion generates polyglycine aggregates and disrupts nucleocytoplasmic transport: Implications for polyglycine diseases","volume":"142","author":"Zhong","year":"2021","journal-title":"Acta Neuropathol"},{"issue":"47","key":"2026070213415834700_fcag206-B35","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.add6391","article-title":"Expression of expanded GGC repeats within NOTCH2NLC causes behavioral deficits and neurodegeneration in a mouse model of neuronal intranuclear inclusion disease","volume":"8","author":"Liu","year":"2022","journal-title":"Sci Adv"},{"issue":"8","key":"2026070213415834700_fcag206-B36","doi-asserted-by":"crossref","first-page":"3373","DOI":"10.1093\/brain\/awad058","article-title":"GGC repeat expansion in NOTCH2NLC induces dysfunction in ribosome biogenesis and translation","volume":"146","author":"Fan","year":"2023","journal-title":"Brain"},{"issue":"41","key":"2026070213415834700_fcag206-B37","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.2208649119","article-title":"CGG repeat expansion in NOTCH2NLC causes mitochondrial dysfunction and progressive neurodegeneration in Drosophila model","volume":"119","author":"Yu","year":"2022","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"35","key":"2026070213415834700_fcag206-B38","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.ado2733","article-title":"The uniqueness of human vulnerability to brain aging in great ape evolution","volume":"10","author":"Vickery","year":"2024","journal-title":"Sci Adv"},{"key":"2026070213415834700_fcag206-B39","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.pneurobio.2014.02.004","article-title":"What is normal in normal aging? Effects of aging, amyloid and Alzheimer's disease on the cerebral cortex and the hippocampus","volume":"117","author":"Fjell","year":"2014","journal-title":"Prog Neurobiol."},{"issue":"7648","key":"2026070213415834700_fcag206-B40","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/nature21726","article-title":"Cerebellar granule cells encode the expectation of reward","volume":"544","author":"Wagner","year":"2017","journal-title":"Nature"},{"issue":"2","key":"2026070213415834700_fcag206-B41","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/s41593-020-00754-9","article-title":"Diversity and dynamism in the cerebellum","volume":"24","author":"De Zeeuw","year":"2021","journal-title":"Nat Neurosci."},{"issue":"5","key":"2026070213415834700_fcag206-B42","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1009506","article-title":"Comparative analysis reveals distinctive epigenetic features of the human cerebellum","volume":"17","author":"Guevara","year":"2021","journal-title":"PLoS Genet"},{"key":"2026070213415834700_fcag206-B43","doi-asserted-by":"crossref","DOI":"10.1016\/j.arr.2022.101651","article-title":"Fractal dimension of the brain in neurodegenerative disease and dementia: A systematic review","volume":"79","author":"Ziukelis","year":"2022","journal-title":"Ageing Res Rev"},{"issue":"1","key":"2026070213415834700_fcag206-B44","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1007\/s11682-015-9384-6","article-title":"Static and dynamic posterior cingulate cortex nodal topology of default mode network predicts attention task performance","volume":"10","author":"Lin","year":"2016","journal-title":"Brain Imaging Behav."},{"issue":"1","key":"2026070213415834700_fcag206-B45","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1111\/neup.12778","article-title":"An autopsy case of adult-onset neuronal intranuclear inclusion disease with perivascular preservation in cerebral white matter","volume":"42","author":"Yoshii","year":"2022","journal-title":"Neuropathology."},{"issue":"12","key":"2026070213415834700_fcag206-B46","doi-asserted-by":"crossref","first-page":"R580","DOI":"10.1016\/j.cub.2017.05.010","article-title":"The insular cortex","volume":"27","author":"Gogolla","year":"2017","journal-title":"Curr Biol"},{"issue":"11","key":"2026070213415834700_fcag206-B47","doi-asserted-by":"crossref","first-page":"1763","DOI":"10.1007\/s12264-024-01211-4","article-title":"The insular Cortex: An interface between sensation, emotion and cognition","volume":"40","author":"Zhang","year":"2024","journal-title":"Neurosci Bull"},{"issue":"21","key":"2026070213415834700_fcag206-B48","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1212\/WNL.0000000000008525","article-title":"Insular cortex: Functional complexity and clinical correlations","volume":"93","author":"Benarroch","year":"2019","journal-title":"Neurology"},{"issue":"2","key":"2026070213415834700_fcag206-B49","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1002\/hbm.26099","article-title":"Functional connectivity gradients of the insula to different cerebral systems","volume":"44","author":"Wang","year":"2023","journal-title":"Hum Brain Mapp."},{"issue":"8","key":"2026070213415834700_fcag206-B50","doi-asserted-by":"crossref","first-page":"1724","DOI":"10.1016\/j.neubiorev.2013.07.001","article-title":"A revised limbic system model for memory, emotion and behaviour","volume":"37","author":"Catani","year":"2013","journal-title":"Neurosci Biobehav Rev"},{"issue":"1","key":"2026070213415834700_fcag206-B51","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1016\/j.cortex.2011.10.004","article-title":"Von Economo neurons: Clinical and evolutionary perspectives","volume":"49","author":"Butti","year":"2013","journal-title":"Cortex"},{"issue":"7","key":"2026070213415834700_fcag206-B52","doi-asserted-by":"crossref","DOI":"10.1002\/jnr.25366","article-title":"Gray matter alterations in Huntington's disease: A meta-analysis of VBM neuroimaging studies","volume":"102","author":"Wang","year":"2024","journal-title":"J Neurosci Res"},{"issue":"1","key":"2026070213415834700_fcag206-B53","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-025-03531-8","article-title":"Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: A cohort study","volume":"20","author":"Ye","year":"2025","journal-title":"Orphanet J Rare Dis"},{"key":"2026070213415834700_fcag206-B54","doi-asserted-by":"crossref","first-page":"1478065","DOI":"10.3389\/fnagi.2024.1478065","article-title":"Diffusion and functional MRI reveal microstructural and network connectivity impairment in adult-onset neuronal intranuclear inclusion disease","volume":"16","author":"Zhu","year":"2024","journal-title":"Front Aging Neurosci"},{"issue":"12","key":"2026070213415834700_fcag206-B55","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1001\/jamaneurol.2018.2333","article-title":"Cerebral atrophy and leukoencephalopathy in a young man presenting with encephalitic episodes","volume":"75","author":"Xiao","year":"2018","journal-title":"JAMA Neurol"},{"issue":"1","key":"2026070213415834700_fcag206-B56","doi-asserted-by":"crossref","DOI":"10.1186\/s12883-022-02936-3","article-title":"Recurrent headache and visual symptoms in a young man: A rare neuronal intranuclear inclusion disease case report","volume":"22","author":"Su","year":"2022","journal-title":"BMC Neurol"},{"key":"2026070213415834700_fcag206-B57","doi-asserted-by":"crossref","DOI":"10.1016\/j.ebiom.2026.106127","article-title":"Plasma p-tau species are elevated in presymptomatic and symptomatic neuronal intranuclear inclusion disease","volume":"124","author":"Zhang","year":"2026","journal-title":"EBioMedicine"},{"issue":"4","key":"2026070213415834700_fcag206-B58","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.0000000000213867","article-title":"Longitudinal changes in brain diffusion characteristics associated with cognition and vascular risk factors: The ARIC-NCS study","volume":"105","author":"Uchida","year":"2025","journal-title":"Neurology"},{"issue":"4","key":"2026070213415834700_fcag206-B59","doi-asserted-by":"crossref","DOI":"10.1002\/alz.70142","article-title":"Quantification of perforant path fibers for early detection of Alzheimer's disease","volume":"21","author":"Uchida","year":"2025","journal-title":"Alzheimers Dement"},{"issue":"3","key":"2026070213415834700_fcag206-B60","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.3233\/JAD-230452","article-title":"Microstructural neurodegeneration of the entorhinal-hippocampus pathway along the Alzheimer's disease Continuum","volume":"95","author":"Uchida","year":"2023","journal-title":"J Alzheimers Dis"}],"container-title":["Brain Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/braincomms\/advance-article-pdf\/doi\/10.1093\/braincomms\/fcag206\/68465506\/fcag206.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/braincomms\/article-pdf\/8\/4\/fcag206\/68465506\/fcag206.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/braincomms\/article-pdf\/8\/4\/fcag206\/68465506\/fcag206.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T17:45:27Z","timestamp":1783014327000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/braincomms\/article\/doi\/10.1093\/braincomms\/fcag206\/8701128"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026]]},"references-count":60,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,7,1]]}},"URL":"https:\/\/doi.org\/10.1093\/braincomms\/fcag206","relation":{},"ISSN":["2632-1297"],"issn-type":[{"value":"2632-1297","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026]]},"published":{"date-parts":[[2026]]},"article-number":"fcag206"}}